TUBB

Domain

The highly acidic C-terminal region may bind cations such as calcium.

Function

Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

Involvement in disease

Cortical dysplasia, complex, with other brain malformations 6

CDCBM6

A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria.

None

The disease is caused by variants affecting the gene represented in this entry.

Skin creases, congenital symmetric circumferential, 1

CSCSC1

An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).

Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).

Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.

Sequence similarities

Belongs to the tubulin family.

Tissue specificity

Ubiquitously expressed with highest levels in spleen, thymus and immature brain.

Cellular localization

• Cytoplasm
• Cytoskeleton

Alternative names

• Tubulin beta chain
• Tubulin beta-5 chain
• OK/SW-cl.56
• TUBB5
• TUBB

Database links

• entrezGene:203068
• omim:191130
• swissprot:P07437

Target type

Proteins

Primary research area

Immunology & Infectious Disease

Molecular weight

49671Da